With more than 12 million Americans currently diagnosed with chronic obstructive pulmonary disease (COPD), and an estimated 12 million yet to be identified, COPD continues to be one of the leading causes of death in the United States1. In fact, the National Heart, Lung, and Blood Institute estimates COPD will be the third leading cause of death in the United States by year 20202.
Some of those currently living with COPD, or even those in which it may develop, could have an underlining genetic disorder leading to their condition. This disorder is called Alpha-1 Antitrypsin Deficiency, or simply Alpha-1, and the American Thoracic Society (ATS) estimates that up to 4.5% of patients with COPD may have severe Alpha-1. The World Health Organization identifies Alpha-1 as one of only three risk factors that can individually cause COPD.
Yet, as much as 95% of the estimated 100,000 individuals having severe Alpha-1 remain undiagnosed or improperly diagnosed. This unsettling statistic does not include carriers of the abnormal Alpha-1 Antitrypsin gene, estimated at 25 million in the United States alone. Studies have shown that even carriers could have an increased risk for lung disease — as much as 18% of COPD patients carry a single copy of the abnormal gene. With an estimated 100,000 Americans having severe Alpha-1, this disorder is more prevalent than cystic fibrosis, tuberculosis and mesothelioma combined3.